Lista de obras - Zornitza Stark - Dominio Público Uruguay

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

artículo científico publicado en 2017

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

artículo científico publicado en 2017

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

scientific article published on 18 July 2019

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

artículo científico publicado en 2014

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature

artículo científico publicado en 2016

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

artículo científico publicado en 2016

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

artículo científico publicado en 2017

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

artículo científico publicado en 2017

Apert syndrome: temporal lobe abnormalities on fetal brain imaging.

artículo científico publicado en 2014

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature

artículo científico publicado en 2012

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

artículo científico publicado en 2022

Clinical problem-solving. Spot diagnosis

artículo científico publicado en 2014

Cpipe: a shared variant detection pipeline designed for diagnostic settings

artículo científico publicado en 2015

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.

artículo científico publicado en 2013

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

artículo científico publicado en 2016

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

artículo científico publicado en 2010

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

artículo científico publicado en 2016

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

artículo científico publicado en 2017

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

scientific journal article

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

artículo científico publicado en 2017

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

artículo científico publicado en 2017

Discussing withholding and withdrawing of life-sustaining medical treatment in paediatric inpatients: audit of current practice

artículo científico publicado en 2008

Ethical controversies in prenatal microarray

artículo científico publicado en 2013

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

artículo científico publicado en 2018

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

artículo científico publicado en 2017

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays

artículo científico publicado en 2011

Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases

artículo científico publicado en 2015

GA4GH: International policies and standards for data sharing across genomic research and healthcare

artículo científico publicado en 2021

Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates

article

Genotype and phenotype spectrum of NRAS germline variants

artículo científico publicado en 2017

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

artículo científico publicado en 2014

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

artículo científico publicado en 2014

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

artículo científico publicado en 2011

KBG syndrome: An Australian experience.

artículo científico publicado en 2017

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

artículo científico publicado en 2019

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

artículo científico publicado en 2017

Meeting report of the 2017 KidGen Renal Genetics Symposium

artículo científico publicado en 2018

Metronidazole Toxicity in Cockayne Syndrome: A Case Series.

artículo científico publicado en 2015

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

artículo científico

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

scientific article published on 10 November 2020

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

artículo científico publicado en 2013

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

artículo científico publicado en 2016

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study

artículo científico publicado en 2018

Osteopetrosis

Phenotypic variability of distal 22q11.2 copy number abnormalities

article

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway

Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?

artículo científico publicado en 2016

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

artículo científico publicado en 2017

Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges

artículo científico publicado en 2023

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

scientific article published on 09 September 2020

Renal Genetics in Australia: Kidney Medicine in the Genomic Age

article

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

artículo científico publicado en 2015

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

artículo científico publicado en 2015

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

artículo científico publicado en 2014

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

scientific article published on 22 May 2020

Triad of tracheoesophageal fistula-esophageal atresia, pulmonary hypoplasia, and duodenal atresia

artículo científico publicado en 2007

Lista de obras de Zornitza Stark

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

Apert syndrome: temporal lobe abnormalities on fetal brain imaging.

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Clinical problem-solving. Spot diagnosis

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

Discussing withholding and withdrawing of life-sustaining medical treatment in paediatric inpatients: audit of current practice

Ethical controversies in prenatal microarray

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays

Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates

Genotype and phenotype spectrum of NRAS germline variants

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

KBG syndrome: An Australian experience.

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Meeting report of the 2017 KidGen Renal Genetics Symposium

Metronidazole Toxicity in Cockayne Syndrome: A Case Series.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study

Osteopetrosis

Phenotypic variability of distal 22q11.2 copy number abnormalities

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway

Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

Renal Genetics in Australia: Kidney Medicine in the Genomic Age

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Triad of tracheoesophageal fistula-esophageal atresia, pulmonary hypoplasia, and duodenal atresia